Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.L316fs

KCNA5

333 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 122–213UCSCBTB/POZ domain
Ion_transaa 249–527UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 5

HGNC Alias Symbols

Kv1.5; HPCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002234.4
p.L316fs
c.946_947fs
Surrounding Variants
1 paper
NM_002234.4
p.L316delFs
c.946_947delCT
1 paper
NM_002234.4
p.L315P
c.944T>C
1 paper
NM_002234.4
p.P314P
c.942G>A
1 paper
NM_002234.4
p.P314R
c.941C>G
1 paper
NM_002234.4
p.L320P
c.959T>C
1 paper
NM_002234.4
p.T311M
c.932C>T
1 paper
NM_002234.4
p.T311P
c.931A>C
1 paper
NM_002234.4
p.T311S
c.931A>T
1 paper
NM_002234.4
p.A321T
c.961G>A
1 paper
NM_002234.4
p.A321D
c.962C>A
1 paper
NM_002234.4
p.A321V
c.962C>T
10 papers
NM_002234.4
p.P310L
c.929C>T
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